P6S (p.Pro6Ser) variant of SMAD3 (SMAD family member 3)
P6S (p.Pro6Ser) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- TOPMed rs1181152060
- gnomAD rs1181152060
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available